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[Growth hormone receptor and dwarfism]

M C Postel-Vinay1

  • 1INSERM, Unité 344, endocrinologie moléculaire, hôpital Necker-Enfants Malades, Paris.

La Revue Du Praticien
|May 15, 1994
PubMed
Summary

Laron syndrome, a rare growth hormone resistance disorder, stems from GH receptor defects. Genetic mutations in the GH receptor gene explain this condition, offering insights into hormone action.

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Area of Science:

  • Endocrinology
  • Human Genetics
  • Molecular Biology

Context:

  • Laron syndrome is a rare autosomal recessive disorder causing extreme resistance to growth hormone (GH).
  • A defect in the GH receptor was hypothesized as the cause, later confirmed after GH receptor cDNA cloning.
  • Genetic heterogeneity of Laron syndrome is evident, with various GH receptor gene abnormalities identified.

Purpose:

  • To investigate the genetic basis of Laron syndrome.
  • To identify specific mutations in the GH receptor gene responsible for the condition.
  • To understand the structure-function relationship of the GH receptor.

Summary:

  • The study identified several GH receptor gene abnormalities in Laron syndrome patients, confirming a GH receptor defect.
  • Most mutations are located in the extracellular domain, specifically the hormone-binding region, correlating with absent GH binding activity.
  • Further mutations are anticipated in patients with normal GH binding protein, suggesting defects in dimerization or signal transduction.

Impact:

  • Laron syndrome serves as a crucial model for understanding GH receptor structure and function in GH action.
  • Identifies the genetic heterogeneity of Laron syndrome, aiding in diagnosis and potential therapeutic strategies.
  • Provides insights into other growth failure conditions, like Pygmies, potentially involving GH receptor gene expression regulation.

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